Journal Detail Information

1

Cite

Share

Sung Ho JO ; Jongmin LEE ; Jungsoo LEE ; Ji Hyun KIM ; Jinseok PARK ; Seung Hyun KIM ; Ki-wook OH

Korean Journal of Neuromuscular Disorders.2020;12(1):13-15. doi:10.46518/kjnmd.2020.12.1.13

Guillain-Barre syndrome (GBS) is acute inflammatory demyelinating polyradiculoneuropathy, which is often related to post-infectious etiology. However, GBS has also been reported to be caused by non-infectious factors such as trauma. This report describes a rare case of post-traumatic GBS with dramatic response to immunoglobulin therapy. And here, we also discussed about the importance of differential diagnosis with critical illness polyneuropathy.

2

Cite

Share

Backpack Palsy Presenting as a First Manifestation of Hereditary Neuropathy with Liability to Pressure Palsy

Ho Sang YOON ; Soo Ji YOON ; Nam-Hee KIM

Korean Journal of Neuromuscular Disorders.2020;12(1):8-12. doi:10.46518/kjnmd.2020.12.1.8

A 21-year-old soldier was admitted due to weakness after carrying a heavy military bag and marching for a long time. Neurophysiologic investigation revealed prominent involvement of right brachial plexus and upper cervical root with mild abnormalities of multiple nerves in the other extremities. Hereditary neuropathy with liability to pressure palsy was confirmed by gene test demonstrating deletion of PMP22 gene. This study presents backpack palsy can appear as a first manifestation of hereditary neuropathy with liability to pressure. The possibility of hereditary neuropathy with liability should be strongly considered in a young patient with non-symptomatic multiple neuropathy.

3

Cite

Share

Acute Cerebral Infarction and Epilepsy in Duchenne Muscular Dystrophy

Grace Yoojin LEE ; Bang-Hoon CHO ; Kyung-Yul LEE

Korean Journal of Neuromuscular Disorders.2020;12(1):5-7. doi:10.46518/kjnmd.2020.12.1.5

Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy caused by mutations in the dystrophin gene. Patients with DMD are more likely to have cerebral infarction than normal populations, possibly due to low ejection fraction and cardiomyopathy, and also higher epilepsy prevalence. Careful history taking and neurological examination are needed for differentiating new symptoms from preexisting weakness in DMD. Here, we present a young male with DMD and acute ischemic stroke followed by recurrent seizures.

4

Cite

Share

Pain in Guillain-Barré Syndrome

Jong-Hee SOHN ; So Hyun AHN ; Seonmin YOON ; Jong Seok BAE

Korean Journal of Neuromuscular Disorders.2020;12(1):1-4. doi:10.46518/kjnmd.2020.12.1.1

Pain in Guillain-Barré syndrome (GBS) is known as a common symptom, experienced by about 72% of patients. Various types of pain are associated with GBS, including paresthesia, dysesthesia, radicular pain, meningism, myalgia and visceral pain. Pain in GBS can vary from mild to severe, often under-recognized and poorly managed. This article reviews the various pains associated with Guillain-Barré syndrome and their management.

5

Cite

Share

Drug-Induced Hyperkalemia Mimicking Guillain-Barre Syndrome

Sung Ho PARK ; Kyong Jin SHIN

Korean Journal of Neuromuscular Disorders.2020;12(2):44-46. doi:10.46518/kjnmd.2020.12.2.44

6

Cite

Share

Isolated Unilateral Ptosis Caused by Idiopathic Orbital Myositis

Jeong Hee CHO ; Sohi BAE ; Taedong OK ; Chan Wook PARK

Korean Journal of Neuromuscular Disorders.2020;12(2):39-43. doi:10.46518/kjnmd.2020.12.2.39

Idiopathic orbital myositis is considered as a subgroup of idiopathic orbital inflammatory disease. It is a non-infectious inflammatory disorder primarily affecting the extraocular muscles and causes various eye symptoms including pain, diplopia and limitation of extraocular movement. Cases of isolated ptosis by idiopathic orbital myositis have been very rarely described in the literature. We report a patient who developed unilateral painless ptosis caused by idiopathic orbital myositis. A 52-year-old man presented with drooping of the right eyelid for 3 days. There was no history of headache, double vision or any other complaints. Neurological examination revealed right ptosis without pupil and extraocular muscles involvement. Repetitive nerve stimulation test was normal. Ptosis did not improve after the neostigmine injection. Magnetic resonance imaging scan showed asymmetric enlargement of right superior rectus/levator palpebrae superioris muscle complex and medial rectus muscle. Ptosis resolved dramatically after oral corticosteroid therapy. Isolated unilateral ptosis can be caused by various etiologies. Idiopathic orbital myositis should be considered in the differential diagnosis of ptosis.

7

Cite

Share

A Guillain-Barré Syndrome with Anti-GQ1b and Anti-GT1a Antibodies Positivity Manifesting with Acute Bulbar Palsy and Subsequent Delayed Ophthalmoplegia

Seonmin YOON ; Jong Seo BAE ; Byeol-A YOON ; Jong Kuk KIM ; Yerim KIM ; Sang-Hwa LEE

Korean Journal of Neuromuscular Disorders.2020;12(2):36-38. doi:10.46518/kjnmd.2020.12.2.36

In Guillain-Barré syndrome (GBS) and its variant, anti-GQ1b antibody has a pathogenic role for ophthalmoplegia. In addition, anti-GT1a antibody is related with lower cranial nerve involvement. This report describes a 60-year-old male patient with GBS manifesting with initially isolated dysphagia and subsequently developed ophthalmoplegia. Both immunoglobulin G type anti-GQ1b and anti-GT1a antibodies were detected in the patient’s serum. A mechanism regarding subsequent involvement of respective cranial nerves remains to be elucidated.

8

Cite

Share

Usefulness of Squatting Combined with the Blood Pressure Measurement for Orthostatic Intolerance in Dizziness Clinic

Hoseong SEO ; Sooyoung KIM ; Eun Hee SOHN ; Seong-Hae JEONG

Korean Journal of Neuromuscular Disorders.2020;12(2):32-35. doi:10.46518/kjnmd.2020.12.2.32

Background: Orthostatic intolerance (OI) is a common clinical symptom in dizziness clinic. The head-up tilt table test (HUT) is one of the primary clinical examination for evaluating OI. There is no consensus on the optimum method for diagnosis of orthostatic hypotension (OH). Herein, we performed the additional squat combined with blood pressure (BP) monitoring for OI patients with normal HUT. Methods: The study included 32 consecutive patients with orthostatic intolerance for 3 months since April, 2018 (Period I) and 27 patients with orthostatic intolerance for 3 months since April, 2019 (Period II) in dizziness clinic of Chungnam National University Hospital. During Period II, the additional squat combined with BP test was performed for normal HUT results in patients with OI. In squat combined orthostatic BP measurement, the first BP measurement was taken following 3 minutes of rest at the squat position; afterwards the patients were raised upright and the measurement was monitored for 2 minutes, using a continuous beat-to-beat BP monitoring. Results: In this study, there was significant difference in OH diagnosis (p<0.001); 40.6% (13/32) by conventional HUT (Period I) vs. 92.5% (25/33) by conventional HUT and additional squat test for normal HUT (Period II). In patients with normal HUT, the positive OH was 86.7% (13/15) by the additional squat combined BP measurement (Period II). Conclusions In addition to HUT, squat test combined with BP measurement might be more informative for understanding and diagnosing the OH, particularly in patients with OI and normal HUT in dizziness clinic.

9

Cite

Share

The Role of Nerve Conduction Comparison Test and Ultrasonography in Diagnosing Carpal Tunnel Syndrome

Kyusik AHN ; Michelle YOUN ; Jong-Moo PARK ; Jung-Ju LEE ; Woong-woo LEE ; Kyusik KANG ; Byung-Kun KIM ; Ohyun KWON

Korean Journal of Neuromuscular Disorders.2020;12(2):24-31. doi:10.46518/kjnmd.2020.12.2.24

Background: The median-to-ulnar comparison test (MUCT), and increasingly, ultrasonography (US) are considered as complementary to and more sensitive than median nerve conduction study (NCS) in diagnosing carpal tunnel syndrome (CTS). Methods: In consecutive patients with hand paresthesia compatible with CTS but with normal median NCS, we additionally performed the MUCT and analyzed whether it yielded better diagnostic sensitivity. Results: In total, 163 hands of clinically diagnosed CTS patients were examined with routine NCS. The MUCT and US were performed in 81 hands and 31 hands, respectively. While median NCS was diagnostic in 85 (52.1%) hands, MUCT failed to demonstrate superior sensitivity over median NCS in the other hands and US revealed related abnormalities better than both routine NCS (p=0.006) and MUCT (p=0.002). Conclusions The MUCT offered no additional diagnostic benefit. On the other hand, sonographic examination had higher sensitivity for the diagnosis of CTS when applying several diagnostic criteria. Thus, US could be the screening test for diagnosing CTS prior to NCS with higher sensitivity than MUCT. However, further studies are needed to define the appropriate diagnostic criteria for US.

10

Cite

Share

Clinical Characteristics of Korean Juvenile Amyotrophic Lateral Sclerosis

Sanggon LEE ; Jinseok PARK ; Ki-Wook OH ; Seung Hyun KIM

Korean Journal of Neuromuscular Disorders.2020;12(2):17-23. doi:10.46518/kjnmd.2020.12.2.17

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) includes ALS patients aged less than 25 years who typically show slow progression. This study aimed to identify the characteristics of juvenile ALS from Korean ALS cohorts. Methods: We retrospectively investigated the clinical characteristics of JALS patients, who met the revised El Escorial-Airlie House criteria, in the Korean motor neuron disease cohort om January 2002 to November 2018. To evaluate the genetic background ofin JALS, we screened the SOD1 mutation in all JALS patients using PCR. Results: Among the seven JALS patients, the mean age was 22.1 years (± 2.19 years) and 4 patients were male. Most patients were diagnosed within less than 12 months, but in one patient, it took 96 months to make the initial diagnosis. On assessing the cognitive function, none of the patients had dementia. The progression rate of JALS during follow-up was usually low (median [IQR], 0.31 [0.11-0.52]), except in patients with SOD1 mutation (3.40) and CLEC4C mutation (1.12). One patient revealed a family history of ALS with SOD1 mutation, but we also detected the SOD1 mutation among sporadic JALS patients. Conclusions Although JALS patients with genetic mutations (SOD1-p.Asn87Ser and CLEC4C-p.Lys210*) showed faster progression than other JALS patients, one patient with SOD1 mutation (p.Gly17Ala) showed slow progression. Familial ALS was rare; however, it might be caused by low or incomplete penetrance of the genes or by small number of JALS patients. To investigate the other genetic causes of JALS without the SOD1 mutation, a further study including detailed genetic analysis is needed.

DISPLAY OPTIONS

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share